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患有1型神经纤维瘤病(NF1)的单卵双胞胎姐妹出现青春期发育不一致的情况。

Discordant puberty in monozygotic twin sisters with neurofibromatosis type 1 (NF1).

作者信息

Kelly T E, Sproul G T, Huerta M G, Rogol A D

机构信息

Division of Medical Genetics, University of Virginia School of Medicine, Charlottesville 22908, USA.

出版信息

Clin Pediatr (Phila). 1998 May;37(5):301-4. doi: 10.1177/000992289803700504.

DOI:10.1177/000992289803700504
PMID:9597296
Abstract

Monozygotic twin sisters are reported who have discordant pubertal growth and sexual development. Although both sisters were physiologically appropriate for chronological age in their pubertal development, their adolescent development was considerably different from that expected of monozygotic twin sisters. The more pubertally advanced sister by magnetic resonance imaging had an optic pathway glioma while none was present in her twin sister. Precocious puberty is not an unexpected complication of neurofibromatosis type 1 and is always associated with the presence of an optic pathway glioma. These sisters emphasize the striking similarity that is expected of monozygotic twins and the need for investigation when intertwin differences in growth and/or development arise.

摘要

据报道,有一对单卵双胞胎姐妹,她们的青春期生长和性发育不一致。尽管姐妹俩在青春期发育方面生理上与实际年龄相符,但她们的青春期发育与单卵双胞胎姐妹预期的情况有很大不同。通过磁共振成像检查,青春期发育更提前的姐姐患有视路胶质瘤,而她的双胞胎妹妹没有。性早熟是1型神经纤维瘤病的一种常见并发症,且总是与视路胶质瘤的存在相关。这对姐妹凸显了单卵双胞胎预期的显著相似性,以及当双胞胎在生长和/或发育方面出现差异时进行调查的必要性。

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Discordant puberty in monozygotic twin sisters with neurofibromatosis type 1 (NF1).患有1型神经纤维瘤病(NF1)的单卵双胞胎姐妹出现青春期发育不一致的情况。
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Concordant optic glioma in a pair of monozygotic twins with neurofibromatosis.一对患有神经纤维瘤病的单卵双胞胎中的一致性视神经胶质瘤。
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